Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952323 | SCV001098818 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759674 | SCV001995037 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Revvity Omics, |
RCV001759674 | SCV003833610 | uncertain significance | not provided | 2023-01-25 | criteria provided, single submitter | clinical testing |